Incidental Mutation 'R2143:Sned1'
ID 236442
Institutional Source Beutler Lab
Gene Symbol Sned1
Ensembl Gene ENSMUSG00000047793
Gene Name sushi, nidogen and EGF-like domains 1
Synonyms D430044C15Rik, 6720455I24Rik, Snep
MMRRC Submission 040146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2143 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93163563-93228787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93199406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 495 (F495L)
Ref Sequence ENSEMBL: ENSMUSP00000050832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062202]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062202
AA Change: F495L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: F495L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
NIDO 103 260 2.98e-54 SMART
EGF 271 309 3.79e-6 SMART
EGF_CA 311 347 2.42e-13 SMART
EGF 352 385 1.02e-6 SMART
EGF_CA 387 423 1.91e-11 SMART
EGF 432 465 2.96e-8 SMART
EGF 471 500 6.02e0 SMART
EGF 544 577 3.54e-6 SMART
EGF 583 616 6.06e-5 SMART
EGF_CA 619 655 2.33e-6 SMART
EGF 660 693 1.77e-6 SMART
CCP 698 751 2.5e-11 SMART
EGF_CA 753 789 1.66e-11 SMART
EGF_CA 791 827 1.38e-8 SMART
EGF_CA 829 865 1.92e-7 SMART
EGF 870 903 2.35e-2 SMART
FN3 906 991 1.7e-4 SMART
FN3 1005 1084 1.38e-4 SMART
FN3 1104 1185 1.6e-9 SMART
EGF 1309 1342 6.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185062
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G C 16: 88,556,053 (GRCm39) S89T probably benign Het
4930522L14Rik C G 5: 109,884,616 (GRCm39) C414S probably damaging Het
4930553M12Rik G A 4: 88,786,411 (GRCm39) T69I unknown Het
4930553M12Rik T A 4: 88,786,412 (GRCm39) T69S unknown Het
Apobr G A 7: 126,186,288 (GRCm39) E600K probably benign Het
Armc8 C A 9: 99,387,361 (GRCm39) R419L probably damaging Het
Ash1l T A 3: 88,892,726 (GRCm39) M1535K probably benign Het
Atf7ip2 A G 16: 10,058,509 (GRCm39) E316G probably null Het
Atp2a1 G A 7: 126,047,897 (GRCm39) R638* probably null Het
Atp8b4 A T 2: 126,216,430 (GRCm39) I672N probably damaging Het
Atrn T C 2: 130,799,916 (GRCm39) V431A probably benign Het
Babam1 T C 8: 71,851,084 (GRCm39) S116P probably damaging Het
Ccdc142 T C 6: 83,079,203 (GRCm39) L180P probably damaging Het
Cd52 T C 4: 133,821,048 (GRCm39) probably benign Het
Cdk17 T C 10: 93,053,881 (GRCm39) L125P probably damaging Het
Ckap5 A G 2: 91,396,090 (GRCm39) D531G probably benign Het
Cntn5 G T 9: 9,748,420 (GRCm39) P487Q probably damaging Het
Crispld1 C T 1: 17,819,860 (GRCm39) T286I probably benign Het
Crtap T C 9: 114,209,036 (GRCm39) Y336C probably damaging Het
Ctu2 T A 8: 123,205,891 (GRCm39) I213K probably benign Het
Dmac2l A G 12: 69,787,828 (GRCm39) Q88R probably damaging Het
Dsc3 A G 18: 20,113,743 (GRCm39) F393S possibly damaging Het
Dsg2 T A 18: 20,712,218 (GRCm39) I118N probably damaging Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Elmo3 T C 8: 106,035,305 (GRCm39) V450A probably damaging Het
Eml5 A C 12: 98,776,864 (GRCm39) F1417C probably damaging Het
Enam T A 5: 88,640,779 (GRCm39) M147K probably benign Het
Entpd1 T C 19: 40,725,227 (GRCm39) Y409H probably damaging Het
Extl1 C A 4: 134,098,355 (GRCm39) E225D probably benign Het
Fbn2 A G 18: 58,186,065 (GRCm39) V1761A possibly damaging Het
Fsip2 A T 2: 82,820,615 (GRCm39) L5449F possibly damaging Het
Gabra5 G A 7: 57,138,763 (GRCm39) T95I probably damaging Het
Gal3st2c C T 1: 93,937,173 (GRCm39) Q373* probably null Het
Gbp5 A C 3: 142,209,593 (GRCm39) T180P probably damaging Het
Glb1 T C 9: 114,266,892 (GRCm39) L212P probably damaging Het
Gm11596 A T 11: 99,683,789 (GRCm39) C110* probably null Het
Gpat2 T C 2: 127,275,682 (GRCm39) F487L probably damaging Het
Hsph1 A T 5: 149,554,951 (GRCm39) H110Q probably damaging Het
Ikbke C A 1: 131,201,211 (GRCm39) V176L probably damaging Het
Ildr2 T C 1: 166,096,895 (GRCm39) V38A probably damaging Het
Inpp4a G T 1: 37,426,827 (GRCm39) C326F probably damaging Het
Irak2 T A 6: 113,649,788 (GRCm39) V141D probably benign Het
Jade1 G A 3: 41,559,143 (GRCm39) R408Q probably benign Het
Jmjd7 C A 2: 119,860,601 (GRCm39) probably null Het
Kdm7a C T 6: 39,145,884 (GRCm39) V348I possibly damaging Het
Kif20a A G 18: 34,758,657 (GRCm39) D42G possibly damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Krt5 A G 15: 101,620,794 (GRCm39) I151T probably damaging Het
Krtap1-5 T C 11: 99,471,644 (GRCm39) I50V probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lrrc71 C T 3: 87,652,828 (GRCm39) W148* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1a T A 2: 121,132,426 (GRCm39) S843T probably damaging Het
Map1s T A 8: 71,363,608 (GRCm39) D48E probably damaging Het
Mast4 A G 13: 102,871,983 (GRCm39) F2462L possibly damaging Het
Mettl21e T A 1: 44,249,398 (GRCm39) Y86F probably benign Het
Myh6 A T 14: 55,190,411 (GRCm39) D1035E probably damaging Het
Naip6 C T 13: 100,436,367 (GRCm39) D719N probably damaging Het
Nat8f2 T G 6: 85,845,239 (GRCm39) H41P probably benign Het
Ncam1 T A 9: 49,454,319 (GRCm39) Q597L possibly damaging Het
Nek1 T A 8: 61,481,730 (GRCm39) I215K probably damaging Het
Nol11 A T 11: 107,071,881 (GRCm39) S237R probably benign Het
Npr2 T C 4: 43,648,166 (GRCm39) F870S probably damaging Het
Nsd1 T C 13: 55,408,210 (GRCm39) Y1285H probably damaging Het
Nup93 C T 8: 95,023,108 (GRCm39) Q229* probably null Het
Or4a15 C T 2: 89,193,447 (GRCm39) E109K probably damaging Het
Or7g12 G A 9: 18,900,099 (GRCm39) A272T probably benign Het
Pappa T A 4: 65,099,186 (GRCm39) Y568* probably null Het
Parva A G 7: 112,159,274 (GRCm39) D180G possibly damaging Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pax1 T A 2: 147,207,802 (GRCm39) C225S probably damaging Het
Pde4dip T A 3: 97,795,835 (GRCm39) E51V possibly damaging Het
Pde6c A T 19: 38,150,777 (GRCm39) H562L probably damaging Het
Pet100 T G 8: 3,672,355 (GRCm39) L14R probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Polr2d T A 18: 31,929,132 (GRCm39) L127Q probably damaging Het
Prkd1 A G 12: 50,536,694 (GRCm39) V130A possibly damaging Het
Psd3 T C 8: 68,417,003 (GRCm39) D45G probably damaging Het
Ptpn13 A G 5: 103,703,999 (GRCm39) T1344A probably benign Het
Ptpn6 T A 6: 124,701,947 (GRCm39) H406L probably benign Het
Ric1 A T 19: 29,510,652 (GRCm39) S78C probably damaging Het
Ric1 G A 19: 29,510,653 (GRCm39) S78N probably damaging Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Senp7 A G 16: 55,990,169 (GRCm39) H639R probably benign Het
Sgtb A T 13: 104,260,767 (GRCm39) D72V probably damaging Het
Slc44a5 T C 3: 153,964,086 (GRCm39) M484T probably benign Het
Slc5a1 A G 5: 33,318,140 (GRCm39) K598E probably benign Het
Slit3 T A 11: 35,503,088 (GRCm39) probably null Het
Smc1b T C 15: 85,008,003 (GRCm39) H258R probably benign Het
Smu1 T C 4: 40,744,073 (GRCm39) D318G probably damaging Het
Svs3a C A 2: 164,131,804 (GRCm39) S124Y probably damaging Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tdpoz1 T A 3: 93,578,143 (GRCm39) R214* probably null Het
Tm2d3 A G 7: 65,344,987 (GRCm39) D54G probably damaging Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Triml2 T A 8: 43,646,548 (GRCm39) W346R probably damaging Het
Trp53bp1 A T 2: 121,046,545 (GRCm39) V1085D probably benign Het
Trpv2 T C 11: 62,483,612 (GRCm39) V483A probably benign Het
Ugp2 G T 11: 21,278,949 (GRCm39) N412K probably benign Het
Upf1 T C 8: 70,792,004 (GRCm39) D418G probably null Het
Vmn2r77 C A 7: 86,461,152 (GRCm39) P826Q probably damaging Het
Vrtn T C 12: 84,696,936 (GRCm39) M562T probably benign Het
Wdr55 A G 18: 36,895,419 (GRCm39) N132S possibly damaging Het
Wipf2 A T 11: 98,787,040 (GRCm39) R356S possibly damaging Het
Zdhhc6 T C 19: 55,287,228 (GRCm39) K411E probably benign Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp280d A G 9: 72,220,011 (GRCm39) N237S probably damaging Het
Zfp445 T G 9: 122,682,547 (GRCm39) S465R possibly damaging Het
Zfp821 A G 8: 110,450,979 (GRCm39) D324G probably damaging Het
Other mutations in Sned1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Sned1 APN 1 93,201,891 (GRCm39) splice site probably benign
IGL00955:Sned1 APN 1 93,202,125 (GRCm39) missense probably damaging 1.00
IGL01367:Sned1 APN 1 93,210,936 (GRCm39) missense probably benign 0.32
IGL02116:Sned1 APN 1 93,209,447 (GRCm39) nonsense probably null
IGL02195:Sned1 APN 1 93,201,882 (GRCm39) missense probably benign 0.03
IGL02390:Sned1 APN 1 93,189,386 (GRCm39) missense probably benign
IGL02423:Sned1 APN 1 93,211,322 (GRCm39) missense probably benign
IGL02451:Sned1 APN 1 93,163,930 (GRCm39) splice site probably benign
IGL02567:Sned1 APN 1 93,202,069 (GRCm39) missense probably damaging 0.96
IGL03184:Sned1 APN 1 93,202,390 (GRCm39) missense probably benign 0.01
IGL03328:Sned1 APN 1 93,217,089 (GRCm39) missense probably benign
Bulger UTSW 1 93,199,385 (GRCm39) nonsense probably null
farina UTSW 1 93,209,374 (GRCm39) missense probably damaging 1.00
Millet UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
triticale UTSW 1 93,281,654 (GRCm39) missense
R0257:Sned1 UTSW 1 93,192,819 (GRCm39) missense possibly damaging 0.75
R0372:Sned1 UTSW 1 93,213,673 (GRCm39) splice site probably benign
R0525:Sned1 UTSW 1 93,199,696 (GRCm39) splice site probably null
R0727:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R0759:Sned1 UTSW 1 93,200,286 (GRCm39) missense probably damaging 1.00
R0965:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R0968:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R0969:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1006:Sned1 UTSW 1 93,184,114 (GRCm39) missense probably damaging 1.00
R1068:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1069:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1070:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1112:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1113:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1114:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1115:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1118:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1119:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1144:Sned1 UTSW 1 93,208,298 (GRCm39) missense probably damaging 0.98
R1228:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1230:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1231:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1313:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1313:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1340:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1382:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1383:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1394:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1395:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1397:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1414:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1430:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1432:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1473:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1503:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1563:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1565:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1689:Sned1 UTSW 1 93,211,094 (GRCm39) missense probably damaging 0.99
R1695:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1734:Sned1 UTSW 1 93,187,490 (GRCm39) missense probably damaging 1.00
R1764:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1767:Sned1 UTSW 1 93,209,376 (GRCm39) missense possibly damaging 0.89
R1896:Sned1 UTSW 1 93,192,769 (GRCm39) missense probably benign 0.16
R1916:Sned1 UTSW 1 93,201,884 (GRCm39) missense probably null 1.00
R1945:Sned1 UTSW 1 93,198,960 (GRCm39) missense probably benign 0.01
R1972:Sned1 UTSW 1 93,192,795 (GRCm39) missense probably damaging 1.00
R1973:Sned1 UTSW 1 93,192,795 (GRCm39) missense probably damaging 1.00
R2144:Sned1 UTSW 1 93,199,406 (GRCm39) missense probably damaging 1.00
R2145:Sned1 UTSW 1 93,199,406 (GRCm39) missense probably damaging 1.00
R2153:Sned1 UTSW 1 93,202,379 (GRCm39) missense probably benign 0.01
R2273:Sned1 UTSW 1 93,209,364 (GRCm39) splice site probably null
R2274:Sned1 UTSW 1 93,209,364 (GRCm39) splice site probably null
R2275:Sned1 UTSW 1 93,209,364 (GRCm39) splice site probably null
R2340:Sned1 UTSW 1 93,184,174 (GRCm39) missense probably damaging 0.98
R3237:Sned1 UTSW 1 93,186,725 (GRCm39) missense probably benign 0.21
R3747:Sned1 UTSW 1 93,189,473 (GRCm39) missense probably damaging 1.00
R3879:Sned1 UTSW 1 93,192,752 (GRCm39) splice site probably benign
R4281:Sned1 UTSW 1 93,213,577 (GRCm39) nonsense probably null
R4282:Sned1 UTSW 1 93,213,577 (GRCm39) nonsense probably null
R4356:Sned1 UTSW 1 93,193,113 (GRCm39) splice site probably null
R4358:Sned1 UTSW 1 93,202,381 (GRCm39) missense probably benign 0.01
R4677:Sned1 UTSW 1 93,224,019 (GRCm39) unclassified probably benign
R5291:Sned1 UTSW 1 93,223,446 (GRCm39) missense possibly damaging 0.80
R5340:Sned1 UTSW 1 93,210,479 (GRCm39) missense probably benign 0.09
R5542:Sned1 UTSW 1 93,199,324 (GRCm39) missense probably benign
R5582:Sned1 UTSW 1 93,210,083 (GRCm39) missense probably damaging 1.00
R5874:Sned1 UTSW 1 93,193,067 (GRCm39) missense probably damaging 1.00
R6159:Sned1 UTSW 1 93,210,659 (GRCm39) missense probably benign 0.00
R6175:Sned1 UTSW 1 93,203,196 (GRCm39) splice site probably null
R6445:Sned1 UTSW 1 93,211,318 (GRCm39) missense possibly damaging 0.89
R6631:Sned1 UTSW 1 93,209,374 (GRCm39) missense probably damaging 1.00
R7018:Sned1 UTSW 1 93,212,143 (GRCm39) missense probably damaging 1.00
R7035:Sned1 UTSW 1 93,189,852 (GRCm39) missense probably damaging 1.00
R7047:Sned1 UTSW 1 93,213,540 (GRCm39) missense possibly damaging 0.51
R7347:Sned1 UTSW 1 93,209,458 (GRCm39) missense probably damaging 1.00
R7427:Sned1 UTSW 1 93,217,080 (GRCm39) missense probably benign 0.11
R7581:Sned1 UTSW 1 93,184,267 (GRCm39) missense probably benign 0.00
R7679:Sned1 UTSW 1 93,163,760 (GRCm39) missense unknown
R7899:Sned1 UTSW 1 93,201,804 (GRCm39) missense probably benign 0.04
R8093:Sned1 UTSW 1 93,202,387 (GRCm39) missense possibly damaging 0.82
R8124:Sned1 UTSW 1 93,210,711 (GRCm39) critical splice donor site probably null
R8489:Sned1 UTSW 1 93,210,978 (GRCm39) nonsense probably null
R9012:Sned1 UTSW 1 93,212,320 (GRCm39) missense probably damaging 0.99
R9290:Sned1 UTSW 1 93,199,385 (GRCm39) nonsense probably null
R9560:Sned1 UTSW 1 93,202,110 (GRCm39) missense probably damaging 1.00
R9775:Sned1 UTSW 1 93,199,604 (GRCm39) missense probably damaging 0.99
X0025:Sned1 UTSW 1 93,189,409 (GRCm39) missense probably damaging 1.00
Z1176:Sned1 UTSW 1 93,186,764 (GRCm39) missense probably damaging 1.00
Z1177:Sned1 UTSW 1 93,213,542 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAGGGTTGACCAGGGTTAG -3'
(R):5'- CTCCATCTGGACACTGCGTG -3'

Sequencing Primer
(F):5'- GGAAAAGGGGGCCACATTCTTTC -3'
(R):5'- ACACTGCGTGTTCATGTTGCAG -3'
Posted On 2014-10-01